Canonical Allele Identifier: CA357418363

Gene: SLC4A4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71451245T>G , CM000666.2:g.71451245T>G	GRCh38
NC_000004.11:g.72316962T>G , CM000666.1:g.72316962T>G	GRCh37
NC_000004.10:g.72535826T>G	NCBI36
NG_012653.1:g.268960T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001098484.3:c.1266T>G MANE Select	NP_001091954.1:p.Asp422Glu
ENST00000264485.11:c.1266T>G MANE Select	ENSP00000264485.5:p.Asp422Glu
NM_003759.4:c.1134T>G MANE Plus Clinical	NP_003750.1:p.Asp378Glu
ENST00000340595.4:c.1134T>G MANE Plus Clinical	ENSP00000344272.3:p.Asp378Glu
NM_001098484.2:c.1266T>G	NP_001091954.1:p.Asp422Glu
NM_001134742.1:c.1266T>G	NP_001128214.1:p.Asp422Glu
NM_001134742.2:c.1266T>G	NP_001128214.1:p.Asp422Glu
NM_003759.3:c.1134T>G	NP_003750.1:p.Asp378Glu
ENST00000264485.9:c.1266T>G	ENSP00000264485.5:p.Asp422Glu
ENST00000340595.3:c.1134T>G	ENSP00000344272.3:p.Asp378Glu
ENST00000351898.10:c.1266T>G	ENSP00000307349.7:p.Asp422Glu
ENST00000425175.5:c.1266T>G	ENSP00000393557.1:p.Asp422Glu
ENST00000512686.5:c.1134T>G	ENSP00000422400.1:p.Asp378Glu
ENST00000514331.1:n.1195T>G
ENST00000649996.1:c.1266T>G	ENSP00000497468.1:p.Asp422Glu
ENST00000698522.1:c.1362T>G	ENSP00000513771.1:p.Asp454Glu
XM_011532390.1:c.708T>G	XP_011530692.1:p.Asp236Glu
XM_011532390.2:c.708T>G	XP_011530692.1:p.Asp236Glu
XM_017008792.1:c.1041T>G	XP_016864281.1:p.Asp347Glu
XM_017008793.1:c.750T>G	XP_016864282.1:p.Asp250Glu
XM_024454267.1:c.1359T>G	XP_024310035.1:p.Asp453Glu
XM_024454268.1:c.1281T>G	XP_024310036.1:p.Asp427Glu
XM_024454269.1:c.1281T>G	XP_024310037.1:p.Asp427Glu
XM_024454270.1:c.1266T>G	XP_024310038.1:p.Asp422Glu
XM_024454271.1:c.1266T>G	XP_024310039.1:p.Asp422Glu
XM_024454272.1:c.1266T>G	XP_024310040.1:p.Asp422Glu